Incidental Mutation 'IGL00911:Arb2a'
| ID |
28836 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Arb2a
|
| Ensembl Gene |
ENSMUSG00000064138 |
| Gene Name |
ARB2 cotranscriptional regulator A |
| Synonyms |
53-E6, 1110033M05Rik, 9430037D06Rik, Fam172a, 2610318O14Rik, pEN87 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.269)
|
| Stock # |
IGL00911
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
77856799-78314359 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 78100094 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091459]
[ENSMUST00000099358]
[ENSMUST00000163257]
[ENSMUST00000224217]
[ENSMUST00000224908]
[ENSMUST00000225623]
|
| AlphaFold |
Q3TNH5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091459
|
| SMART Domains |
Protein: ENSMUSP00000089038
Gene: ENSMUSG00000064138
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arb2
|
30 |
178 |
7.8e-38 |
PFAM |
|
SCOP:d1imja_
|
224 |
295 |
2e-3 |
SMART |
|
low complexity region
|
341 |
354 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099358
|
| SMART Domains |
Protein: ENSMUSP00000096960
Gene: ENSMUSG00000064138
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1imja_
|
160 |
231 |
2e-3 |
SMART |
|
low complexity region
|
277 |
290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000163257
|
| SMART Domains |
Protein: ENSMUSP00000133140
Gene: ENSMUSG00000064138
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
|
Pfam:Arb2
|
78 |
228 |
3.5e-44 |
PFAM |
|
SCOP:d1imja_
|
270 |
341 |
2e-3 |
SMART |
|
low complexity region
|
387 |
400 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224217
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224889
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224908
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225623
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afm |
T |
C |
5: 90,673,450 (GRCm39) |
V234A |
probably benign |
Het |
| Alas1 |
T |
A |
9: 106,113,671 (GRCm39) |
I525F |
probably benign |
Het |
| Ambra1 |
T |
A |
2: 91,598,027 (GRCm39) |
|
probably benign |
Het |
| Apbb2 |
G |
A |
5: 66,608,855 (GRCm39) |
T264M |
probably damaging |
Het |
| Arhgap40 |
A |
G |
2: 158,376,636 (GRCm39) |
|
probably benign |
Het |
| Chd9 |
C |
T |
8: 91,778,320 (GRCm39) |
P2793L |
probably damaging |
Het |
| Clstn1 |
T |
G |
4: 149,727,648 (GRCm39) |
|
probably benign |
Het |
| Cyp2f2 |
T |
C |
7: 26,821,354 (GRCm39) |
V13A |
probably damaging |
Het |
| Dnah1 |
C |
T |
14: 31,026,391 (GRCm39) |
|
probably null |
Het |
| Eogt |
A |
T |
6: 97,096,961 (GRCm39) |
V349E |
probably damaging |
Het |
| Epb41 |
T |
C |
4: 131,717,095 (GRCm39) |
D353G |
possibly damaging |
Het |
| Fbxo38 |
T |
A |
18: 62,663,871 (GRCm39) |
I207F |
possibly damaging |
Het |
| Frem2 |
T |
C |
3: 53,479,883 (GRCm39) |
S1937G |
probably damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Kcnh3 |
G |
T |
15: 99,130,882 (GRCm39) |
G500* |
probably null |
Het |
| Khdc1b |
A |
T |
1: 21,454,578 (GRCm39) |
K94* |
probably null |
Het |
| Lpcat2 |
T |
C |
8: 93,617,338 (GRCm39) |
Y367H |
probably damaging |
Het |
| Lrrd1 |
A |
C |
5: 3,915,689 (GRCm39) |
N762T |
probably benign |
Het |
| Mbl2 |
T |
A |
19: 30,215,794 (GRCm39) |
D100E |
possibly damaging |
Het |
| Mthfr |
T |
G |
4: 148,125,759 (GRCm39) |
S31A |
probably benign |
Het |
| Nrp1 |
T |
A |
8: 129,202,688 (GRCm39) |
S558T |
probably benign |
Het |
| Nrxn3 |
T |
C |
12: 90,171,366 (GRCm39) |
L1254P |
probably damaging |
Het |
| Or2ag12 |
A |
T |
7: 106,277,040 (GRCm39) |
Y218N |
probably damaging |
Het |
| Pabpc1l |
C |
A |
2: 163,884,343 (GRCm39) |
T360K |
probably damaging |
Het |
| Pcgf1 |
G |
A |
6: 83,057,606 (GRCm39) |
G92S |
probably damaging |
Het |
| Penk |
T |
C |
4: 4,134,347 (GRCm39) |
Y100C |
probably damaging |
Het |
| Pik3r1 |
T |
C |
13: 101,894,169 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,187,971 (GRCm39) |
T3446S |
probably benign |
Het |
| Plcg2 |
G |
A |
8: 118,313,254 (GRCm39) |
D473N |
probably benign |
Het |
| Poll |
G |
T |
19: 45,542,040 (GRCm39) |
T422K |
probably damaging |
Het |
| Skint3 |
T |
A |
4: 112,113,106 (GRCm39) |
|
probably benign |
Het |
| Stab2 |
C |
A |
10: 86,805,617 (GRCm39) |
C243F |
probably damaging |
Het |
| Supt6 |
T |
C |
11: 78,122,007 (GRCm39) |
E215G |
possibly damaging |
Het |
| Tas1r2 |
C |
A |
4: 139,387,602 (GRCm39) |
P354T |
probably benign |
Het |
| Tenm2 |
G |
A |
11: 35,899,560 (GRCm39) |
Q2533* |
probably null |
Het |
| Tmem121 |
C |
T |
12: 113,151,851 (GRCm39) |
A23V |
probably damaging |
Het |
|
| Other mutations in Arb2a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01455:Arb2a
|
APN |
13 |
78,050,766 (GRCm39) |
splice site |
probably benign |
|
|
IGL01534:Arb2a
|
APN |
13 |
78,147,830 (GRCm39) |
splice site |
probably benign |
|
|
IGL01812:Arb2a
|
APN |
13 |
77,909,966 (GRCm39) |
nonsense |
probably null |
|
|
R0107:Arb2a
|
UTSW |
13 |
78,050,933 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0329:Arb2a
|
UTSW |
13 |
77,910,070 (GRCm39) |
intron |
probably benign |
|
|
R0455:Arb2a
|
UTSW |
13 |
77,982,832 (GRCm39) |
splice site |
probably benign |
|
|
R1112:Arb2a
|
UTSW |
13 |
77,910,005 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Arb2a
|
UTSW |
13 |
77,910,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1547:Arb2a
|
UTSW |
13 |
77,973,509 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1667:Arb2a
|
UTSW |
13 |
77,907,635 (GRCm39) |
start codon destroyed |
probably null |
0.04 |
|
R1961:Arb2a
|
UTSW |
13 |
78,050,839 (GRCm39) |
missense |
probably benign |
0.24 |
|
R2018:Arb2a
|
UTSW |
13 |
78,147,756 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R5878:Arb2a
|
UTSW |
13 |
78,100,186 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7230:Arb2a
|
UTSW |
13 |
77,907,591 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7449:Arb2a
|
UTSW |
13 |
77,907,561 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7867:Arb2a
|
UTSW |
13 |
78,050,837 (GRCm39) |
missense |
probably benign |
|
|
R8080:Arb2a
|
UTSW |
13 |
78,154,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8839:Arb2a
|
UTSW |
13 |
78,147,781 (GRCm39) |
missense |
probably benign |
0.11 |
|
R8895:Arb2a
|
UTSW |
13 |
78,147,773 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9094:Arb2a
|
UTSW |
13 |
78,311,725 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
RF003:Arb2a
|
UTSW |
13 |
77,982,794 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Posted On |
2013-04-17 |
Incidental Mutation